Literature DB >> 32546081

ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction.

Jose María Bastida1, Rocío Benito2, José Ramón González-Porras1, José Rivera3.   

Abstract

Entities:  

Keywords:  ABCG5; ABCG8; bleeding; inherited platelet disorders; sitosterolemia; thrombocytopenia

Mesh：

Substances：

Year:  2020        PMID： 32546081     DOI： 10.1080/09537104.2020.1779926

Source DB:  PubMed          Journal:  Platelets        ISSN： 0953-7104            Impact factor:   3.862


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  5 in total

1.  Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

Authors:  Jun Zhang; Qiu-Li Chen; Song Guo; Yan-Hong Li; Chuan Li; Ru-Jiang Zheng; Xue-Qun Luo; Hua-Mei Ma
Journal:  Lipids Health Dis       Date:  2022-10-13       Impact factor: 4.315

2.  Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia).

Authors:  Sudhamsh Reddy Desai; Anu Korula; Uday Prakash Kulkarni; Aswathy Ashok Menon; Shaji V Ramachandran; Eunice Sindhuvi; Arun Jose Nellickal; Sukesh C Nair; Biju George
Journal:  Indian J Hematol Blood Transfus       Date:  2020-10-22       Impact factor: 0.900

Review 3.  Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia.

Authors:  José María Bastida; José Ramón Gonzalez-Porras; José Rivera; María Luisa Lozano
Journal:  Int J Mol Sci       Date:  2021-04-21       Impact factor: 5.923

4.  Case Report: Next Generation Sequencing in Clinical Practice-A Real Tool for Ending the Protracted Diagnostic Odyssey.

Authors:  Alena S Limonova; Alexandra I Ershova; Alexey N Meshkov; Anna V Kiseleva; Mikhail G Divashuk; Marina V Kurkina; Oxana M Drapkina
Journal:  Front Cardiovasc Med       Date:  2022-01-13

Review 5.  Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.

Authors:  Kori Williams; Allison Segard; Gregory A Graf
Journal:  Int J Mol Sci       Date:  2021-03-05       Impact factor: 5.923
  5 in total

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